Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA.

abstract：:End sequences from bacterial artificial chromosomes (BACs) provide highly specific sequence markers in large-scale sequencing projects. To date, we have generated >300,000 end sequences from >186,000 human BAC clones with an average read length of >460 bp for a total of 141 Mb covering approximately 4.7% of the genome...

journal_title：Genomics

authors： Zhao S,Malek J,Mahairas G,Fu L,Nierman W,Venter JC,Adams MD

更新日期：2000-02-01 00:00:00

abstract：:G. Chimini et al. (1989, Genomics 5: 316-324) have recently reported that the two multilocus DNA fingerprinting probes 33.6 and 33.15 each detect a single major site in the human genome, at 1q23 and 7q35-q36, respectively, and speculate that these sites represent particularly large loci homologous to these probes. How...

journal_title：Genomics

authors： Jeffreys AJ,MacLeod A,Neumann R,Povey S,Royle NJ

更新日期：1990-07-01 00:00:00

abstract：:The Duchenne muscular dystrophy locus is remarkable in that it shows a high mutation rate and the majority of mutations found are deletions. These deletions are generated as meiotic as well as mitotic events and occur preferentially in the central region of the gene. Nothing is known so far about the mechanisms involv...

journal_title：Genomics

authors： Love DR,England SB,Speer A,Marsden RF,Bloomfield JF,Roche AL,Cross GS,Mountford RC,Smith TJ,Davies KE

更新日期：1991-05-01 00:00:00

abstract：:A gene family of Na+/H+ exchanger isoforms has been identified. Characterization of rabbit NHE3 suggests that it is the apical epithelial Na+/H+ exchanger isoform responsible for transepithelial, electroneutral Na+ absorption in intestinal and renal epithelial cells. We have previously isolated from a human kidney cor...

journal_title：Genomics

authors： Brant SR,Bernstein M,Wasmuth JJ,Taylor EW,McPherson JD,Li X,Walker S,Pouyssegur J,Donowitz M,Tse CM

更新日期：1993-03-01 00:00:00

abstract：:A locus for Usher syndrome type III (USH3; MIM No. 276902) was recently assigned to a 5-cM region on chromosome 3q. We constructed a yeast artificial chromosome contig that allowed us to position novel polymorphisms in the region. These were typed in a total of 32 pedigrees from a geographically isolated Finnish found...

journal_title：Genomics

authors： Joensuu T,Blanco G,Pakarinen L,Sistonen P,Kääriäinen H,Brown S,Chapelle A,Sankila EM

更新日期：1996-12-15 00:00:00

abstract：:Type XI collagen, a minor structural component of cartilage fibrils, is composed of three chains, alpha 1(XI), alpha 2(XI), and alpha 3(XI). Using a cloned fragment of the human alpha 2(XI) collagen gene (COL11A2) as a molecular probe for in situ hybridization and somatic cell hybrid mapping, we have localized the gen...

journal_title：Genomics

authors： Hanson IM,Gorman P,Lui VC,Cheah KS,Solomon E,Trowsdale J

更新日期：1989-11-01 00:00:00

abstract：:Nineteen polymorphic lymphocyte proteins were previously detected by two-dimensional protein electrophoresis (2DE). In this report, we describe the genetic linkage mapping of six of these polymorphic proteins (PNIA1-PNIA6), the identification by genetic linkage of a seventh (glyoxalase 1 on 6p21), and support for the ...

journal_title：Genomics

authors： Goldman D,O'Brien SJ,Lucas-Derse S,Dean M

更新日期：1991-12-01 00:00:00

abstract：:The Trp-Asp (WD) motif has been shown to exist in a number of proteins. Genes containing repeats of the WD motif compose a large gene family associated with a variety of cellular functions and can be divided into a number of functional subfamilies. By means of the differential display method using ttw, a mouse model f...

journal_title：Genomics

authors： Koshizuka Y,Ikegawa S,Sano M,Nakamura K,Nakamura Y

更新日期：2001-03-15 00:00:00

abstract：:Acid sphingomyelinase (ASM; HGMW-approved symbol, SMPD1) is the lysosomal phosphodiesterase that hydrolyzes sphingomyelin to ceramide and phosphocholine. The deficient activity of this enzyme results in Types A and B Niemann-Pick disease (NPD). The full-length cDNA encoding human ASM has been isolated and characterize...

journal_title：Genomics

authors： Schuchman EH,Levran O,Pereira LV,Desnick RJ

更新日期：1992-02-01 00:00:00

abstract：:The intercellular adhesion molecules ICAM1 and ICAM2 are the cell-surface ligands for the lymphocyte function-associated antigen LFA-1 (CD11a/CD18) and are thought to mediate cell-cell adhesion interactions required by the immune system. However, differences in tissue distribution, inducibility of expression, and over...

journal_title：Genomics

authors： Sansom D,Borrow J,Solomon E,Trowsdale J

更新日期：1991-10-01 00:00:00

abstract：:alpha-Satellite subfamilies from chromosomes 21 and 13 are almost identical in sequence and cannot be distinguished from each other by hybridization techniques. A general method based on membrane-bound PCR is described here, allowing the discrimination of alpha-satellite DNA sequences from each of these two chromosome...

journal_title：Genomics

authors： Charlieu JP,Murgue B,Laurent AM,Marçais B,Bellis M,Roizès G

更新日期：1992-10-01 00:00:00

abstract：:Isochromosome 17q has previously been observed consistently in cytogenetic studies of medulloblastoma, the most common posterior fossa neoplasm in children. We performed a restriction fragment length polymorphism (RFLP) investigation of medulloblastoma which showed a loss of chromosome 17p sequences in 45% of these tu...

journal_title：Genomics

authors： Cogen PH,Daneshvar L,Metzger AK,Edwards MS

更新日期：1990-10-01 00:00:00

abstract：:Through an exhaustive homology-based approach, coupled with manual efforts, we annotated and characterized 128 sensory neuron membrane proteins (SNMPs) from genomes and transcriptomes of 22 coleopteran species, with 107 novel candidates. Remarkably, we discovered, for the first time, a novel SNMP group, defined as Gro...

journal_title：Genomics

authors： Zhao YJ,Li GC,Zhu JY,Liu NY

更新日期：2020-07-01 00:00:00

abstract：:Quantitative reverse transcription polymerase chain reaction (qRT-PCR) is currently viewed as the most precise technique to quantify levels of messenger RNA. Relative quantification compares the expression of a target gene under two or more experimental conditions normalized to the measured expression of a control gen...

journal_title：Genomics

authors： Steibel JP,Poletto R,Coussens PM,Rosa GJ

更新日期：2009-08-01 00:00:00

abstract：:Long sequencing reads offer unprecedented opportunities in analysis and reconstruction of complex genomic regions. However, the gain in sequence length is often traded for quality. Therefore, recently several approaches have been proposed (e.g. higher sequencing coverage, hybrid assembly or sequence correction) to enh...

journal_title：Genomics

authors： Mahmoud M,Zywicki M,Twardowski T,Karlowski WM

更新日期：2019-01-01 00:00:00

abstract：:Of 311 expressed sequenced tags (ESTs) mapped to single human chromosomes by analysis of a monochromosome somatic cell hybrid panel, 29 were localized to chromosome 3. Analysis of somatic cell hybrid lines containing different regions of chromosome 3 has enabled the regional assignment of these 29 ESTs to 13 of 23 int...

journal_title：Genomics

authors： Jones MH,Tirosvoutis KN,Bowgen C,Davey P,Moore S,Naylor S,Affara NA

更新日期：1998-11-01 00:00:00

abstract：:The localization of a gene responsible for a normal variant of the human electroencephalogram to the distal part of chromosome 20q is reported. A linkage analysis, including 17 families with 191 individuals, tested with 73 RFLPs and 22 blood and serological markers, was performed for the low-voltage electroencephalogr...

journal_title：Genomics

authors： Steinlein O,Anokhin A,Yping M,Schalt E,Vogel F

更新日期：1992-01-01 00:00:00

abstract：:We have identified a gene at chromosome band 19q13.1, which is closely related to MLL. MLL is located in a region of chromosome 11q23 that has partial synteny with chromosome 19q. We have named this gene at 19q13.1, MLL2. MLL2 encodes a protein that exhibits a high level of similarity to MLL over several important pro...

journal_title：Genomics

authors： FitzGerald KT,Diaz MO

更新日期：1999-07-15 00:00:00

abstract：:Molecular loss of heterozygosity studies on human gliomas have shown several regions on chromosome 10 frequently deleted in higher grade tumors, suggesting that chromosome 10 may contain several tumor suppressor genes. We assessed loss of heterozygosity with microsatellite markers in 20 gliomas, consisting of various ...

journal_title：Genomics

authors： Kimmelman AC,Ross DA,Liang BC

更新日期：1996-06-01 00:00:00

abstract：:Neurotensin (NTS) is an endogenous tridecapeptide of the central nervous system and the gastrointestinal tract of different mammalian species including human. The human gene encoding neurotensin has previously been assigned to chromosome 12 but no regional localization was available. We now confirm this assignment and...

journal_title：Genomics

authors： Marondel I,Renault B,Lieman J,Ward D,Kucherlapati R

更新日期：1996-12-01 00:00:00

abstract：:Mammalian sex chromosomes are the remnants of an ancient autosomal pair present in the ancestral mammalian karyotype. As a consequence of random decay and chromosome rearrangements over evolutionary time, Y chromosome gene repertoires differ between eutherian lineages. To investigate the gene repertoire and transcript...

journal_title：Genomics

authors： Pearks Wilkerson AJ,Raudsepp T,Graves T,Albracht D,Warren W,Chowdhary BP,Skow LC,Murphy WJ

更新日期：2008-11-01 00:00:00

abstract：:In extracellular fluids the insulin-like growth factors (IGFs) are bound to specific binding proteins (IGBPs). The genes for two members of this protein family have been mapped, the IGBP1 gene to human chromosomal region 7p14-p12 and the IGBP2 gene to region 2q33-q34. In this study, somatic cell hybrid analysis indica...

journal_title：Genomics

authors： Ehrenborg E,Larsson C,Stern I,Janson M,Powell DR,Luthman H

更新日期：1992-03-01 00:00:00

abstract：:Despite antibiotic therapy and vaccination programs, microbial diseases continue to be the leading cause of morbidity and mortality worldwide. The genetic basis of the host response to infection is complex, and its understanding has been facilitated through the study of mouse models of human infectious diseases. Genet...

journal_title：Genomics

authors： Sebastiani G,Olien L,Gauthier S,Skamene E,Morgan K,Gros P,Malo D

更新日期：1998-01-15 00:00:00

abstract：:Mcm proteins perform functions related to the regulation of eukaryotic genome replication. Previous work has shown that human cells contain at least five different Mcm proteins. We report now the amino acid sequence of an additional human Mcm protein, p105Mcm, and show that it is homologous to the Schizosaccharomyces ...

journal_title：Genomics

authors： Holthoff HP,Hameister H,Knippers R

更新日期：1996-10-01 00:00:00

abstract：:The rat HNF-3 (hepatocyte nuclear factor 3) gene family encodes three transcription factors known to be important in the regulation of gene expression in liver and lung. We have cloned and characterized the mouse genes and cDNAs for HNF-3 alpha, beta, and gamma and analyzed their expression patterns in various adult t...

journal_title：Genomics

authors： Kaestner KH,Hiemisch H,Luckow B,Schütz G

更新日期：1994-04-01 00:00:00

abstract：:We investigated a family with a duplication, dup(X)q26-q27, that was present in two brothers, their mother, and their maternal grandmother. The brothers carrying the duplication displayed spina bifida and panhypopituitarism, whereas a third healthy brother inherited the normal X chromosome. Preferential inactivation o...

journal_title：Genomics

authors： Hol FA,Schepens MT,van Beersum SE,Redolfi E,Affer M,Vezzoni P,Hamel BC,Karnes PS,Mariman EC,Zucchi I

更新日期：2000-10-15 00:00:00

abstract：:We used a combination of sequence analysis and exon trapping in an effort to determine the complete transcript map for a cosmid (6E5) derived from 12q13.3, a region of DNA sequence amplification in human cancers. This cosmid, previously known to contain three genes (CDK4, SAS, and OS9), was sequenced, and that informa...

journal_title：Genomics

authors： Elkahloun AG,Krizman DB,Wang Z,Hofmann TA,Roe B,Meltzer PS

更新日期：1997-06-01 00:00:00

abstract：:The loci DNF15S1 and DNF15S2 are members of a small repetitive sequence family at discrete chromosomal locations, namely, 1p36 and 3p21, respectively. Studies of the structure, arrangement, and interrelations of the family suggest that the single copy on chromosome 3 is the original member and that this gave rise to t...

journal_title：Genomics

authors： Welch HM,Darby JK,Pilz AJ,Ko CM,Carritt B

更新日期：1989-10-01 00:00:00

abstract：:Sp4H is a semi-dominant mutation that maps to mouse chromosome 1. Heterozygous mice exhibit white spotting of the belly, whereas the fate of the homozygous embryos is unknown. We have previously shown that the entire coding region of the Pax3 gene is deleted in the Sp4H mutant. In this study, we have analyzed the fate...

journal_title：Genomics

authors： Fleming J,Pearce A,Brown SD,Steel KP

更新日期：1996-06-01 00:00:00

abstract：:Cytogenetic studies of banded chromosomes and fluorescence in situ hybridization (FISH) of several yeast artificial chromosomes (YACs) that are part of a 128-kb resolution physical map of a portion of 12q13 revealed that 4/14 (28%) lipomas have breakpoints in 12q13. These breakpoints are more than 10 Mb away from the ...

journal_title：Genomics

authors： Merscher S,Marondel I,Pedeutour F,Gaudray P,Kucherlapati R,Turc-Carel C

更新日期：1997-11-15 00:00:00